Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.25012021_25015415del , CM000685.2:g.25012021_25015415del | GRCh38 |
| NC_000023.10:g.25030138_25033532del , CM000685.1:g.25030138_25033532del | GRCh37 |
| NC_000023.9:g.24940059_24943453del | NCBI36 |
| NG_008281.1:g.5536_8930del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000379044.5:c.196+129_1073+903del | ||
| ENST00000379044.4:c.196+129_1073+903del | ||
| NM_139058.2:c.196+129_1073+903del | ||
| NM_139058.3:c.196+129_1073+903del |